AutismKB 2.0

View CNVs/SVs


View by Evidence Type: All ( CNVs Only Present In Patients   de novo CNVs   Overlapping/Recurrent CNVs  
                                        CNVs Overlapping With ACRD   CNVs Not Present In Control   Significant Enriched CNVs   Others  All  )


View by Chromosome:All ( 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X  Y  All  )


Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0002227 X Xq21.31 loss 1 - Pinto, 2010
AutCNV0002228 X Xq21.31 gain 1 - Pinto, 2010
AutCNV0002229 X Xq23 gain 1 - Pinto, 2010
AutCNV0002230 X Xq25 loss 1 - Pinto, 2010
AutCNV0002231 X Xq26.3 loss 1 - Pinto, 2010
AutCNV0002232 X Xq27.3 loss 1 - Pinto, 2010
AutCNV0002233 X Xq27.3 gain 1 - Pinto, 2010
AutCNV0002234 15 15q25.1 gain 1 - Pinto, 2010
AutCNV0002235 1 1p36.13 loss 1 - Pinto, 2010
AutCNV0002236 1 1p33 gain 1 - Pinto, 2010
AutCNV0002237 1 1q44 loss 1 - Pinto, 2010
AutCNV0002238 2 2p22.3 gain 1 - Pinto, 2010
AutCNV0002239 2 2p21 gain 1 - Pinto, 2010
AutCNV0002240 2 2p21 loss 1 - Pinto, 2010
AutCNV0002241 2 2p11.2 loss 1 - Pinto, 2010
AutCNV0002242 2 2q13 loss 1 - Pinto, 2010
AutCNV0002243 2 2q13 loss 1 - Pinto, 2010
AutCNV0002244 2 2q22.3 gain 1 - Pinto, 2010
AutCNV0002245 2 2q32.3 loss 1 - Pinto, 2010
AutCNV0002246 3 3p26.3 gain 1 - Pinto, 2010
AutCNV0002247 3 3q13.32 gain 1 - Pinto, 2010
AutCNV0002248 4 4q24 gain 1 - Pinto, 2010
AutCNV0002249 5 5p14.3 loss 1 - Pinto, 2010
AutCNV0002250 5 5p12 gain 1 - Pinto, 2010
AutCNV0002251 5 5q13.2 gain 1 - Pinto, 2010

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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